Filtered By:
Procedure: CT Scan

This page shows you your search results in order of relevance.

Order by Relevance | Date

Total 203 results found since Jan 2013.

G.P.267: Nebulin-associated myopathy: New genetic and pathologic presentations
This study represents the disease associated with novel NEB mutations marked by the presence of additional pathological features, as well as nemaline rods. Although mixed pathology has been already reported in core-rod myopathy with NEB mutations, muscle pathology in these patients is more characteristic, and clinical manifestation is much milder compared with the previous ones. This report suggests the expanded clinical and pathological spectrum of nebulin-associated myopathy with new genetic and pathologic features. Further, next genome sequencing might be helpful for searching mutations in big, huge-sized genes, such as NEB.
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: Y.E. Park, S.H. Park, J.M. Lee, J.H. Shin, B.R. Kang, C.H. Lee, D.S. Kim Source Type: research

Multimodality imaging findings of visceral myopathy in a child presenting with palpable abdominal mass.
We report a rare case of visceral myopathy in a child presenting with intraabdominal mass. We aimed to describe ultrasound, computed tomography and magnetic resonance enterography findings of this rare disease that has not been demonstrated before. Differential diagnosis of mural thickening with distinguishable layers in addition to intestinal dilatation in the absence of mesenteric inflammation includes visceral myopathy. PMID: 31559733 [PubMed - in process]
Source: The Turkish Journal of Pediatrics - September 29, 2019 Category: Pediatrics Authors: Bayramoğlu Z, Yılmaz R, Demir AA, Ataizi-Çelikel Ç, Kombak FE, İkinci A, Yekeler E Tags: Turk J Pediatr Source Type: research

Diagnostic work-up in steroid myopathy
ConclusionsWe suggest that the management of steroid myopathy patients in clinical research and practice would benefit from a multidisciplinary approach based on the combined assessment of muscle mass, strength, and performance. However, further studies are required to establish an operational definition of steroid myopathy and to identify population-specific criteria for diagnosis of the myopathic process.
Source: Endocrine - November 15, 2017 Category: Endocrinology Source Type: research

P.9.2 Autosomal dominant nemaline myopathy with marked intrafamilial phenotypic variability
We report a family of autosomal dominant (AD) myopathy with marked intrafamilial phenotypic variability.A 12month old female neonate presented with hypotonia, developmental delay and failure to thrive. The patient had lip cyanosis followed by cardiac arrest. After treatment, she was unable to wean the ventilator, and currently shows hypotonia, with slight improvement. The laboratory findings and brain imaging were unremarkable. Genetic tests for common inherited neuromuscular disorders returned normal. The muscle biopsy showed intranuclear rods with selective type 1 fiber atrophy. Electron microscopy demonstrated severe lo...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: J.S. Park, J.H. Shin, S.J. Hwang, D.S. Kim Source Type: research

Clinicopathological features of sarcoidosis manifesting as generalized chronic myopathy
Abstract Although chronic myopathy has been reported to affect skeletal muscle in sarcoidosis, its clinicopathological features have not been fully elucidated. We characterized the clinical, histopathological, and prognostic features of eleven patients with sarcoidosis manifesting with chronically progressive, generalized myopathy that was confirmed with muscle biopsy. Generalized muscle weakness extending to the four extremities and trunk was the cardinal feature of these cases. Muscle atrophy was evident in nine patients, particularly in the lower limbs, whereas myalgia was reported in only two patients. Myopath...
Source: Journal of Neurology - February 26, 2015 Category: Neurology Source Type: research

Pulmonary Pathologic Manifestations of Anti-Alanyl-tRNA Synthetase (Anti-PL-12)-Related Inflammatory Myopathy.
CONCLUSIONS: - Lung disease is often the first manifestation of anti-PL-12 ARS. There are no pathognomonic histopathologic features to distinguish anti-PL-12 ARS-related lung disease from idiopathic variants of diffuse interstitial lung disease. Increased inflammation, lymphoid aggregates, and nonspecific interstitial pneumonia-like areas in a biopsy, as well as clinical features of mechanic's hands, Raynaud phenomenon, arthritis, and fever, should prompt pathologists to suggest involvement by ARS. PMID: 28967806 [PubMed - as supplied by publisher]
Source: Archives of Pathology and Laboratory Medicine - October 2, 2017 Category: Laboratory Medicine Authors: Schneider F, Yousem SA, Oddis CV, Aggarwal R Tags: Arch Pathol Lab Med Source Type: research

Myopathy is a Risk Factor for Poor Prognosis of Patients with Systemic Sclerosis: A retrospective cohort study
To compare clinical characteristics and identify long-term outcomes of Chinese patients with systemic sclerosis (SSc) with and without muscle involvement. We retrospectively investigated the medical records, laboratory results, and computed tomography images of 204 consecutive SSc patients. Kaplan–Meier analysis was performed to determine survival rates. Patients were allocated into groups with and without myopathy. The prevalence of myopathy was 21.6%. The myopathy group was more likely to develop diffuse cutaneous involvement (90.9% vs 56%, P = .006), interstitial lung disease (90% vs 56%, P 
Source: Medicine - August 14, 2020 Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research

Hypokalemic myopathy in primary aldosteronism: A case report.
Authors: Wu C, Xin J, Xin M, Zou H, Jing L, Zhu C, Lei W Abstract Primary aldosteronism (PA) is a rare disorder. The majority of patients with PA present with typical features and are easily diagnosed. This disorder is usually diagnosed with hypokalemia, hypertension or an adrenal mass. However, patients with atypical symptoms may present a challenge for diagnosis and treatment. In the present study, a case of PA is described that presented with hypokalemic myopathy simulating polymyositis. The patient was a 44-year-old woman who presented with weakness and difficulty walking. The patient was initially suspected to...
Source: Experimental and Therapeutic Medicine - January 20, 2017 Category: Journals (General) Tags: Exp Ther Med Source Type: research

Acute large bowel pseudo-obstruction due to atrophic visceral myopathy: A case report
Conclusions Atrophic visceral neuropathy is a rare cause of intestinal pseudo-obstruction. While often presenting with chronic obstruction in younger populations, we present a rare late-onset acute presentation that may have been secondary to underlying hypothyroidism.
Source: International Journal of Surgery Case Reports - February 27, 2017 Category: Surgery Source Type: research

18F-FDG PET/CT versus conventional investigations for cancer screening in autoimmune inflammatory myopathy in the era of novel myopathy classifications
Conclusion 18F-FDG PET/CT does not appear to be useful in cancer screening for AIM patients compared with conventional screening and carries potential harms associated with follow-up investigations. The risk of cancer in AIM differs by myositis-specific antibodies-defined subsets and cancer screening is likely to be indicated only in high-risk patients, particularly DM. These results, replicated in larger, multicentered studies, may carry significant consequences for optimal management of AIM and health resource utilization.
Source: Nuclear Medicine Communications - March 16, 2019 Category: Nuclear Medicine Tags: ORIGINAL ARTICLES Source Type: research

P035  Inflammatory myopathy and metabolic disorders causing myopathies
Conclusion This lady was initially managed as inflammatory myopathy but did not respond to high dose methylprednisolone. There were atypical features including normal inflammatory markers, MRI thighs showing predominantly fatty infiltration and muscle atrophy and the muscle biopsy with abundant lipid accumu lation suggestive of a metabolic disorder. We are awaiting full results of genetic testing. This case is a reminder of the importance of tissue diagnosis and reassessing the initial diagnosis if the clinical picture changes or patients do not respond as expected to treatment.Disclosure M. Malik: None.A. Mason: None....
Source: Rheumatology - April 26, 2021 Category: Rheumatology Source Type: research

Myopathy associated with anti-signal recognition particle antibodies with pulmonary involvement and response to rituximab
AbstractThe authors present the case of a 76-year-old female patient with progressive decrease in proximal muscle strength, fatigue, dyspnea, diffuse hand edema and painful triphasic Raynaud ’s phenomenon. Anti-SRP and anti-SSA antibodies were detected, muscle biopsy revealed changes consistent with necrotizing myopathy and capillaroscopy had findings compatible with systemic sclerosis. High-resolution chest computed tomography revealed interstitial lung disease with a non-specific in terstitial pneumonia pattern. Lung function tests demonstrated a forced vital capacity 93% and a diffusing capacity for carbon monoxide of...
Source: Rheumatology International - June 16, 2022 Category: Rheumatology Source Type: research

Massive gastrointestinal dilatation in a case of hereditary hollow visceral myopathy
Hereditary hollow visceral myopathy (HHVM) is a rare genetic cause of intestinal pseudo-obstruction described sparingly in the literature . A 21-year-old-male was diagnosed with HHVM based on clinical symptoms, gastroduodenal manometry demonstrating low-amplitude contractions in the stomach and small intestines, and intestinal histopathology demonstrating diffuse fibrous replacement of smooth muscle; his father was also affected, with similar manometric and histopathologic changes. He presented acutely to the Emergency Room with complaints of abdominal pain, recurrent emesis of feculent material, and severe gaseous distent...
Source: Digestive and Liver Disease - July 1, 2013 Category: Gastroenterology Authors: Robert J. Huang, Chohee Yun, Linda Nguyen Tags: Image of the Month Source Type: research